Interphase cytogenetics in paraffin sections of routinely processed hydatidiform moles and hydropic abortions

Kaa, C.A. van de; Nelson, Karin A. M.; Ramaekers, Frans C. S.; Vooijs, P.; Hopman, Anton H. N.

doi:10.1002/path.1711650403

Cited by 37 publications

(19 citation statements)

References 31 publications

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“…In contrast, analysis of numerical chromosomal aberrations by nonisotopic in situ hybridization (ISH) to isolated nuclei of solid tumors has proved to be efficient and successful (1,8,16,34,40). ISH on formalin-fixed, paraffin-embedded tissue sections created the possibility of chromosomal analysis in archival material (5,9,23,38). The latter ISH technique has the great advantage of preserved morphology leaving different cell types distinguishable and enabling analysis of the tumorigenic cells only (36).…”

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confidence: 99%

Detection of genetic changes in Barrett's adenocarcirioma and Barrett's esophagus by DNA in situ hybridization and immunohistochemistry

Krishnadath

Tilanus

Alers³

et al. 1994

Cytometry

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We have investigated the occurrence of chromosomal DNA and cell cycle‐related protein changes in Barrett's epithelium and adenocarcinoma. The presence of numerical chromosomal aberrations was studied by applying nonisotopic in situ hybridization (ISH) with (peri‐)centromeric DNA probes, specific for chromosomes 7, 8, 17, and Y, to routinely processed tissue sections of five cases (4 male, 1 female) of Barrett's adenocarcinoma and adjacent Barrett's epithelium. Cell cycle‐related protein expression was studied by immunohistochemistry (IHC) for p53 protein and the Ki‐67 antigen (Mib‐1) in subsequent sections. P53 protein overexpression was found in 3 of the 5 tumors. Overrepresentation of chromosome 8 and loss of chromosome 17 were found in 2 adenocarcinomas, both also negative for p53 protein overexpression. Y‐loss, mostly clonal, was detected in 3 of the 4 male adenocarcinomas and 2 cases of adjacent Barrett's epithelium. One tumor had both areas of overrepresentation and loss of the Y chromosome. All Barrett's adenocarcinomas appeared to contain aneuploid cell populations. No relation was found between cell proliferation characteristics and chromosomal aberrations. We conclude that ISH with chromosome specific DNA probes can be applied for the assessment of potentially important numerical chromosome changes in Barrett's esophagus. Further, the combination of IHC and ISH is useful for evaluation of specific genetic events. © 1994 Wiley‐Liss, Inc.

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confidence: 99%

Detection of genetic changes in Barrett's adenocarcirioma and Barrett's esophagus by DNA in situ hybridization and immunohistochemistry

Krishnadath

Tilanus

Alers³

et al. 1994

Cytometry

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“…Some of the complete moles are dispermic, resulting from entry of two sperms into the empty ovum (heterozygous). 36 It has been estimated that about 10-25% of complete moles are products of dispermy [37][38][39] and genetically may be either heterozygous 46, XX or 46, XY. 27 In the current study, about one-third of the diploid complete moles were heterozygous.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, molecular genetic techniques that can identify the parental origin of the fetal genome help to distinguish complete from partial moles, and heterozygous from homozygous complete moles. Such techniques may make use of the unique DNA polymorphisms in each individual, including restriction fragment length polymorphism (RFLP), 38,39 variable number tandem repeat (VNTR), 40 and microsatellite analysis 32 can be used to determine the genetic origin of the hydatidiform mole.…”

Section: Discussionmentioning

confidence: 99%

Analysis of gestational trophoblastic disease by genotyping and chromosome in situ hybridization

et al. 2003

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Hydatidiform mole is classified into partial and complete subtypes according to histopathological and genetic criteria. Distinction between the two by histology alone may be difficult. Genetically, a complete mole is diploid without maternal contribution, whereas a partial mole is triploid with a maternal chromosome complement. To assess the accuracy of histological diagnosis by correlating with the genetic composition, we performed fluorescent microsatellite genotyping to detect the presence or absence of maternal genome in a hydatidiform mole and carried out chromosome in situ hybridization to analyze the ploidy. For genotyping analysis, paraffin sections of 36 complete and nine partial moles, diagnosed according to histological criteria, were microdissected and DNA was separately extracted from the decidua and molar villi. Six pairs of primers that flank polymorphic microsatellite repeat sequences on five different chromosomes were used. In all, 34 cases, including 31 complete moles and three partial moles diagnosed histologically, showed no maternal contribution by genotyping; thus these could be genetically considered as complete mole. The other 11 cases (five complete moles and six partial moles previously diagnosed by histology) showed the presence of maternal contribution and were genetically diagnosed as partial moles. The genotyping results correlated with histological evaluation in 88% (37/45) of hydatidiform mole and correlated with chromosome in situ hybridization findings in all the cases, that is, triploid hydatidiform moles had maternal-derived alleles, while diploid hydatidiform moles were purely androgenetic. Compared with genetic diagnosis, histological evaluation was more reliable for the diagnosis of a complete mole (91%, 31/34) than that of a partial mole (55%, 6/11) (P ¼ 0.0033). Seven complete moles and three partial moles diagnosed genetically developed gestational trophoblastic neoplasia. To conclude, genotyping and chromosome in situ hybridization can provide reliable adjunct to histology for the classification of a hydatidiform mole, especially in cases with difficult histological evaluation and early gestational age. As a partial mole still carries a risk of developing gestational trophoblastic neoplasia, follow-up is considered necessary for both complete and partial moles.

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“…Following hybridisation, the sections were incubated with 1:20 normal sheep serum for 30 minutes to block non-specific binding sites and 1:50 peroxidase labelled sheep antidigoxigenin for one hour at room temperature, washed with TBS containing 0.05% Tween-20, and reacted with 0.05% diaminobenzidine and 0.01% H 2 O 2 in TBS, pH 7.6, for 10 min- Hybridised sections were assessed essentially as described previously. [13][14][15] Criteria for counting signals were: (1) overlapping interphase nuclei were excluded; (2) signals of nearly similar size were counted; (3) split spots were counted as one signal; and (4) weak signals were excluded. The interobserver variability in assessing the signals was less than 8%.…”

Section: In Situ Hybridisationmentioning

confidence: 99%

“…Recently, in situ hybridisation using chromosome specific probes has been shown to be a reproducible and valid method of detecting numerical chromosome aberrations and assessing nuclear ploidy in routinely processed, paraYn embedded tissue sections. [13][14][15][16] The method had been referred to as "interphase cytogenetics." 17 18 These suggest that ploidy analysis plays an important role in the diagnosis and classification of molar disease.…”

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confidence: 99%

Interphase cytogenetic and AgNOR analyses of hydatidiform moles.

et al. 1998

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Aim-To determine the potential value of interphase cytogenetic and argyrophilic nucleolar organiser region (AgNOR) analyses in the diagnosis and classification of hydatidiform moles. Methods-Serial tissue sections from 37 hydatidiform moles, histologically classified as 11 complete and 15 partial, and from 11 hydropic abortuses were examined by in situ hybridisation using digoxigenin labelled probes specific for chromosomes 1, X, and Y, and a one step silver staining method. The percentages of diploid and triploid nuclei, and the mean number of AgNORs for each tissue were determined. Results-Interphase cytogenetics showed that eight of the 11 cases (73%) each of complete mole and hydropic abortus had diploid pattern and the three remaining cases (27%) of each group were triploid. Two of the triploid complete moles and one of the triploid hydropic abortuses were revised to partial moles and one remaining triploid complete mole was revised to hydropic abortus. Of the 15 partial moles, nine (60%) were triploid, and six (40%) were diploid. These diploid cases were revised to three complete moles and three hydropic abortuses. There was a significant diVerence (p < 0.0001) between the mean (SD) AgNOR count in partial mole (5.11 (0.91)) versus hydropic abortus (3.79 (0.90)) and complete mole (3.39 (0.97)). The total of 15 triploid cases showed a high mean AgNOR count of 5.24 (0.73). Also, after reclassification, eight of the nine partial moles (89%) had a mean AgNOR count of > 5. The results of analyses by the two methods were closely correlated. Conclusions-Interphasecytogeneticanalysis using chromosome specific probes and AgNOR count provides a valuable approach for ploidy analysis in histological sections of hydatidiform moles and helps to resolve diYcult cases. (J Clin Pathol 1998;51:438-443)

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Interphase cytogenetics in paraffin sections of routinely processed hydatidiform moles and hydropic abortions

Cited by 37 publications

References 31 publications

Detection of genetic changes in Barrett's adenocarcirioma and Barrett's esophagus by DNA in situ hybridization and immunohistochemistry

Detection of genetic changes in Barrett's adenocarcirioma and Barrett's esophagus by DNA in situ hybridization and immunohistochemistry

Analysis of gestational trophoblastic disease by genotyping and chromosome in situ hybridization

Interphase cytogenetic and AgNOR analyses of hydatidiform moles.

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